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Protein

BTB/POZ domain-containing protein KCTD11

Gene

KCTD11

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Plays a role as a marker and a regulator of neuronal differentiation; Up-regulated by a variety of neurogenic signals, such as retinoic acid, epidermal growth factor/EGF and NGFB/nerve growth factor. Induces apoptosis, growth arrest and the expression of cyclin-dependent kinase inhibitor CDKN1B. Plays a role as a tumor repressor and inhibits cell growth and tumorigenicity of medulloblastoma (MDB). Acts as an E3 ubiquitin-protein ligase towards HDAC1, leading to its proteasomal degradation. Functions as antagonist of the Hedgehog pathway on cell proliferation and differentiation by affecting the nuclear transfer of transcrition factor GLI1, thus maintaining cerebellar granule cells in undifferentiated state, this effect probably occurs via HDAC1 down-regulation, keeping GLI1 acetylated and inactive. When knock-down, Hedgehog antagonism is impaired and proliferation of granule cells is sustained. Activates the caspase cascade.3 Publications

Pathwayi: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Cell cycle, Growth regulation, Ubl conjugation pathway

Enzyme and pathway databases

UniPathwayiUPA00143.

Names & Taxonomyi

Protein namesi
Recommended name:
BTB/POZ domain-containing protein KCTD11
Gene namesi
Name:KCTD11
Synonyms:C17orf36, REN
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:21302. KCTD11.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Keywords - Diseasei

Tumor suppressor

Organism-specific databases

PharmGKBiPA134890547.

Polymorphism and mutation databases

BioMutaiKCTD11.
DMDMi74708977.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 232232BTB/POZ domain-containing protein KCTD11PRO_0000248591Add
BLAST

Proteomic databases

PaxDbiQ693B1.
PRIDEiQ693B1.

Expressioni

Tissue specificityi

Higher expression in cerebellum than in whole brain and lower expression in medulloblastoma.1 Publication

Gene expression databases

BgeeiQ693B1.
CleanExiHS_KCTD11.
HS_REN.
GenevisibleiQ693B1. HS.

Organism-specific databases

HPAiHPA052035.

Interactioni

Subunit structurei

Homotetramer. Component of the BCR(KCTD11) E3 ubiquitin ligase complex, at least composed of CUL3 and KCTD11 and RBX1. Interacts with CUL3.1 Publication

Protein-protein interaction databases

BioGridi127031. 3 interactions.
STRINGi9606.ENSP00000328352.

Structurei

3D structure databases

ProteinModelPortaliQ693B1.
SMRiQ693B1. Positions 2-70.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini1 – 4949BTBAdd
BLAST

Domaini

The BTB domain is required for growth-suppressing properties.

Sequence similaritiesi

Contains 1 BTB (POZ) domain.Curated

Phylogenomic databases

eggNOGiKOG2723. Eukaryota.
ENOG410Z155. LUCA.
GeneTreeiENSGT00760000119013.
HOGENOMiHOG000231837.
HOVERGENiHBG080457.
InParanoidiQ693B1.
OMAiEWAPRPA.
OrthoDBiEOG7DJSN0.
PhylomeDBiQ693B1.
TreeFamiTF315332.

Family and domain databases

InterProiIPR011333. SKP1/BTB/POZ.
IPR003131. T1-type_BTB.
[Graphical view]
PfamiPF02214. BTB_2. 1 hit.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative initiation. AlignAdd to basket

Isoform 1 (identifier: Q693B1-1) [UniParc]FASTAAdd to basket

Also known as: sKCTD11

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MLGAMFRAGT PMPPNLNSQG GGHYFIDRDG KAFRHILNFL RLGRLDLPRG
60 70 80 90 100
YGETALLRAE ADFYQIRPLL DALRELEASQ GTPAPTAALL HADVDVSPRL
110 120 130 140 150
VHFSARRGPH HYELSSVQVD TFRANLFCTD SECLGALRAR FGVASGDRAE
160 170 180 190 200
GSPHFHLEWA PRPVELPEVE YGRLGLQPLW TGGPGERREV VGTPSFLEEV
210 220 230
LRVALEHGFR LDSVFPDPED LLNSRSLRFV RH
Length:232
Mass (Da):25,887
Last modified:September 13, 2004 - v1
Checksum:i7F075902E4259B2D
GO
Isoform 2 (identifier: Q693B1-2) [UniParc]FASTAAdd to basket

Also known as: lKCTD11

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MSPPPVPSSPPSFGGPVTLNVGGTLYSTTLETLTRFPDSM

Note: Non-AUG start codon.
Show »
Length:271
Mass (Da):29,875
Checksum:i79D501B415B3B608
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti22 – 221G → S.
Corresponds to variant rs8080182 [ dbSNP | Ensembl ].
VAR_027354

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 11M → MSPPPVPSSPPSFGGPVTLN VGGTLYSTTLETLTRFPDSM in isoform 2. 1 PublicationVSP_044086

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY646650 mRNA. Translation: AAT75307.1.
AK056227 mRNA. Translation: BAG51652.1.
CH471108 Genomic DNA. Translation: EAW90208.1.
BC110598 mRNA. Translation: AAI10599.1.
CCDSiCCDS32545.1. [Q693B1-1]
RefSeqiNP_001002914.1. NM_001002914.2. [Q693B1-1]
UniGeneiHs.592112.

Genome annotation databases

EnsembliENST00000333751; ENSP00000328352; ENSG00000213859. [Q693B1-1]
GeneIDi147040.
KEGGihsa:147040.
UCSCiuc002gge.5. human. [Q693B1-1]

Keywords - Coding sequence diversityi

Alternative initiation, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY646650 mRNA. Translation: AAT75307.1.
AK056227 mRNA. Translation: BAG51652.1.
CH471108 Genomic DNA. Translation: EAW90208.1.
BC110598 mRNA. Translation: AAI10599.1.
CCDSiCCDS32545.1. [Q693B1-1]
RefSeqiNP_001002914.1. NM_001002914.2. [Q693B1-1]
UniGeneiHs.592112.

3D structure databases

ProteinModelPortaliQ693B1.
SMRiQ693B1. Positions 2-70.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127031. 3 interactions.
STRINGi9606.ENSP00000328352.

Polymorphism and mutation databases

BioMutaiKCTD11.
DMDMi74708977.

Proteomic databases

PaxDbiQ693B1.
PRIDEiQ693B1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000333751; ENSP00000328352; ENSG00000213859. [Q693B1-1]
GeneIDi147040.
KEGGihsa:147040.
UCSCiuc002gge.5. human. [Q693B1-1]

Organism-specific databases

CTDi147040.
GeneCardsiKCTD11.
HGNCiHGNC:21302. KCTD11.
HPAiHPA052035.
MIMi609848. gene.
neXtProtiNX_Q693B1.
PharmGKBiPA134890547.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2723. Eukaryota.
ENOG410Z155. LUCA.
GeneTreeiENSGT00760000119013.
HOGENOMiHOG000231837.
HOVERGENiHBG080457.
InParanoidiQ693B1.
OMAiEWAPRPA.
OrthoDBiEOG7DJSN0.
PhylomeDBiQ693B1.
TreeFamiTF315332.

Enzyme and pathway databases

UniPathwayiUPA00143.

Miscellaneous databases

GenomeRNAii147040.
NextBioi85535.
PROiQ693B1.
SOURCEiSearch...

Gene expression databases

BgeeiQ693B1.
CleanExiHS_KCTD11.
HS_REN.
GenevisibleiQ693B1. HS.

Family and domain databases

InterProiIPR011333. SKP1/BTB/POZ.
IPR003131. T1-type_BTB.
[Graphical view]
PfamiPF02214. BTB_2. 1 hit.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY, CHARACTERIZATION OF BTB DOMAIN, ROLE IN MEDULLOBLASTOMA DEVELOPMENT.
  2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION, ALTERNATIVE INITIATION, USE OF A NON-AUG INITIATOR START CODON, SUBUNIT, INTERACTION WITH CUL3.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  6. Cited for: FUNCTION IN UBIQUITINATION OF HDAC1.

Entry informationi

Entry nameiKCD11_HUMAN
AccessioniPrimary (citable) accession number: Q693B1
Secondary accession number(s): B3KPE0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 5, 2006
Last sequence update: September 13, 2004
Last modified: March 16, 2016
This is version 97 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

Haploinsufficiency of KCTD11 may be a cause of development of medulloblastoma (MDB). MDB is a malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children. An allelic deletion involving genes from chromosome region 17p11.2-pter, sometimes restricted to 17p13.2-13.3, occurs in up to 50% of MDB.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.